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Non-invasive prenatal testing to be offered on the NHS

57 replies

TheMshipIsBack · 15/01/2016 09:20

On the BBC website. I had this done privately and found it very reassuring. It's not clear from this article if all women will be offered NIPT or only those with high risk of trisomies from the nuchal scan.

OP posts:
Ang69 · 21/01/2016 10:37

Hairylittlecarrot, I don't believe anyone wants to withhold information. You are right that people need to make informed choices for themselves. However, when it comes to Down Syndrome it is in my experience assumed that you would terminate as the medical profession paint a very bleak future that couldn't be further from the truth. What I would like to see is alongside the results from this test some proper up to date information so parents can then decide if they could actually continue as opposed to just going along with what the doctors think. I have been in contact with many parents now who feel like me and are horrified that they would have terminated a child with so much potential based on lack of support and knowledge. Like I said before, these tests are great advancements but with them comes greater responsibility to ensure that parents know all the ins and outs.

Under and Wips, our children are just amazing aren't they!! My little girl has just turned 4 now and is so well, happy and funny. Her siblings adore her and she is loving preschool. How old are your children?

Ang69 · 21/01/2016 10:42

Crumblybiscuits, no, I am very much pro choice. I just commented that had I had the test or even had my amino worked I would have terminated based on what the doctors said and my own knowledge ( I was a HCP ). The reality however was very different and that wasn't conveyed to me at all so I would have made a decision based not on facts just scaremongering. Of course for some people they will terminate and I completely respect that but they should make that decision based on what it really is like not just what they think.

Ang69 · 21/01/2016 10:44

Crumbly, posted before I finished. I'm really sorry you had to go through that. It must have been so so hard and yes parents need to know what they are dealing with and make choices for them. Hope you are doing ok.

Samcro · 21/01/2016 10:55

DeAtHnOtE no idea, they didn't go into it ....just threw it out there.

HairyLittleCarrot · 21/01/2016 10:55

Ang69

I agree, that MORE information is required, not less. We should be telling women everything we possibly can about their pregnancies, and providing accurate and not misleading information about what that reality might mean.

When I knew what my possible genetic outcomes were, I contacted a person who ran a global support group for parents of children with this incredibly rare syndrome, to understand what life was like for such parents. I am forever grateful to her for her bravery and honesty to me.

UnderTheF1oorboards · 21/01/2016 11:17

Smile Ang69. DS1 is 5, in mainstream school and loving it. He seems to be popular with his classmates and is keeping up academically. His speech has come on light years since he started school. He's just started ballet classes which, frankly, constitutes a massive public safety hazard but it makes him very happy. He's a tremendous little chap and the single best thing that's ever happened to me.

My experience when pregnant with NT DS2 was interesting. We were offered CVS straight away (big London neonatal research centre) even though the odds were very low on the basis that DS1's odds had also been low. We were clear we didn't want the CVS so they rolled out several big professors to talk to us in serious voices about the implications. Once they saw we were genuinely happy to raise a second child with Downs they broke into smiles and shook our hands. I wonder whether clinicians dealing with pregnant women try so hard to keep to cold hard facts (possible medical issues) that a negative impression is inadvertantly created. They can't be objective if they convey how excellent people with Downs really are. For this reason, I wish they signposted to local support groups.

Crumblybiscuits I'm very sorry to hear about your TFMR. I have supported friends through this and I know it's devastating. It's a big leap to presume that fear of increased terminations for Downs = anti-abortion. I'm also staunchly pro-choice but that choice must be properly informed. The outlook and the opportunities for children born with Downs today really are very good, but no-one tells you that at 12 weeks pregnant.

A while ago a friend of mine chose to terminate because the foetus had Downs. I found that difficult to deal with and was very hurt that, having known my son since birth, she would rather terminate than raise a (lovely) child like him. However, I supported her absolutely and didn't let my feelings show for one second because her needs and her choice were paramount.

cestlavielife · 21/01/2016 11:22

alongside the notes about the test there needs to be a massive campaign about what DS means - clearly something like Edwards or Patau's syndrome is devastating diagnosis; while DS can be relatively mild (tho variable, just like children with no issues identified are variable).

Promoting people with DS in the mainstream will go along way towards that...

of course it is still anyone's choice,

but the media information is all about "testing for down syndrome" which is solely focused on DS, in a kind of negative way.... while Pataus and Edwards are much more serious conditions. It's also not really pointed out you could have a child with a completely different condition...

x2boys · 21/01/2016 18:26

thats intersting cestlavie my son also has a microdeletion i had never heard of these untill ds2 was born with it it has caused autism asnd learning disabillities [according to the geneticists] chrromosome didorders are not that uncommon 1 in every 150200 babies are born with them according to unique.

x2boys · 21/01/2016 18:28

1 in ever 150 -200 babies*

IPityThePontipines · 21/01/2016 23:58

I absolutely echo what cestlavie said at 11:22.

lastuseraccount123 · 22/01/2016 00:03

this has been available where I live for some time. It's a good thing, imo.

cestlavielife · 22/01/2016 15:15

x2boys and the irony is that i was told looked high risks for down syndrome at 11 weeks (in those words - only down syndrome was mentioned) and tho i declined amnio etc chromosome test at 4 months old was fine "well he doesn't have down syndrome" (so had i had amnio it would have been all clear)...yet his midrodeletion and him in particular far more severe needs than the children with DS who I know..

clear harmony (or amnio) when there are markers could give false information/expectations - tho i have heard of babies being diagnosed prenatally (we have at least one on the fb group for my son's deletion) with microdeletions which means microarray is being offered via amnio too..

and clear harmony test does not mean no risk at all of a learning disability.

it is kind of weird really to market and focus so much on one (potentially mild) chromosome disorder so much when all the other rare ones combined give rise to many children with learning disabilities. (plus accident/disease/etc)

UnderTheF1oorboards · 22/01/2016 17:08

Absolutely. There are two information breakdowns involved; Downs being falsely portrayed as a disaster, and little or no focus on other disorders.

x2boys · 22/01/2016 17:14

would they only test prenatally though if you already had a child with a microdeletion though and it was inherited ? Ds,s is de novo i agree though people need to know about the rarer chromosome disorders its affected my son massivley he is severley autistic and has moderate to severe learning disabillities [thankfully no health issues or mobility issues although i know of pleanty of children that are affected physically and health wise] .

hazeyjane · 22/01/2016 19:03

In Denmark, the country where this testing was first rolled out as a routine prenatal test, the Copenhagen Post reported...in 2011 that Denmark “could be a country without a single citizen with Down syndrome in the not too distant future.” as the amount of births of children with Downs has fallen so dramatically.

I find this incredibly disturbing.

WipsGlitter · 22/01/2016 19:04

How depressing that a world free of difference is something to be lauded.

x2boys · 22/01/2016 19:07

me too hazey .

DeAtHnOtE · 22/01/2016 19:19

How depressing that a world free of difference is something to be lauded.

I'd never tell any woman what choice to make, but having looked after older people with down syndrome it makes me glad that we all have that choice. Whether it's having the tests or not, or deciding how to proceed based on the results of that test. All are valid choices.

I know that my children could fall ill or suffer a life changing event that would require the same level of care or even more but I don't think it's fair to compare TFMR with 'a world free of difference'.

DH and I would not have proceeded with a pregnancy where a trisomy was confirmed and I refuse to feel any shame about that.

WipsGlitter · 22/01/2016 19:59

Having looked after older people with autism, cancer, motor neurone disease, dementia, Alzheimer's, Parkinson's, global developmental delay.... Etc etc.

What is about Downs Syndrome that people are so scared of?

AveEldon · 22/01/2016 20:05

The Panorama test offers additional testing that will look for microdeletions

DeAtHnOtE · 22/01/2016 21:36

What is about Downs Syndrome that people are so scared of?

Not 'scared' at all. Hmm

DeAtHnOtE · 22/01/2016 21:42

And I don't think anyone should have to justify their reasons, whether that's for or against.

Partly because parents of children with ds might find my reasoning upsetting, and parents who decided to tfmr might find the reasoning of parents of children with ds upsetting.

As with any pregnancy, personal choice.

WipsGlitter · 22/01/2016 22:07

That wasn't directed at you specifically, sorry if you think it was. It was a more general musing. It's always Down's that people talk about. Rarely the other trisomies.

WipsGlitter · 22/01/2016 22:11

And while you may not have been scared of you go onto the pregnancy/conception threads it's all about the Down's risk never anything else. People are scared of it. Maybe not you but others definitely.

BertieBotts · 22/01/2016 22:23

HairyLittleCarrot, can I PM you about translocation (tomorrow, it's too late for me now) is that OK?